Yawning

In early April of 2015 our Bug started doing this weird yawning thing. Now obviously that is not at all the medically correct term, but none the less that is the best way I can describe it. It was almost as if she was gasping for air, sometimes as much as 10-15 times a minute. As it didn’t appear to bother her, and it mostly happened when she was relaxed, for a few days we decided to just keep an eye on her and see what happened. 

After about 3 days where it did not go away and was not get any less frequent, we called her pediatrician who had us come in for a visit to check things out. After an exam where the doctor listened to her breathing, and took some blood for good measure, we were about to be sent on our way with the thought that it probably was just a tick that would go away with time. Last thing before we left, the doctor decided to check her blood oxygen levels, just to see if they were normal (98-100). Bug’s were measuring on average 87, so not normal. Needless to say, we did not get to go home.

With the absence of any other symptoms such as wheezing or coughing, we were back to square 1 with what was going on. In an effort to at least get an idea, the pediatrician had us do a chest x-ray to see what we could see. From the x-ray we could see that there was a hazy area on her lower right lung. Our next step was off to Children’s Hospital Omaha for more tests!

April 2015

HHT/JPS Defined:

Both Jay-Are and Bug have been diagnosed with Hereditary Hemorrhagic Telangiectasia (tel-AN-jee-eck-TAZE-ee-ya) / Juvenile polyp syndrome (HHT/JPS). Jay-Are has previously had many symptoms and complications from this disorder that only recently have we been able to put together and give a name to.

HHT (also known as Osler-Weber-Rendu) affects approximately 1 in 5,000 people, males and females equally from all racial and ethnic groups. Most simply defined it is a hereditary disorder that is characterized by abnormal blood vessels. This disorder presents itself through the abnormal formation of capillaries between arteries and veins – basically it means you don’t always form normal capillaries and that causes telangiectasia’s (tel-AN-jee-eck-TAZE-ee-ya) in the smaller blood vessels and Arteriovenous malformation (AVM) in the larger blood vessels.

These abnormal formations have a tendency to bleed, and depending upon where they are located and the size of the telangiectasia, it can cause major complications. These most commonly occur on the face and hands and the lining of the nose and mouth. Recurrent nosebleeds are common (the most common symptom) of HHT. Telangiectasia’s can also show up in the digestive tract which can cause bleeding leading to anemia.

The larger AVMs can be in multiple organs, but most typically are seen in the brain, lungs and liver. In Jay-Are and Bug’s case they only have pulmonary AVMs. These AVMs cause a person to be at a higher risk for both stroke and brain embolism due to the lack of capillaries to screen the blood through.

A great website for additional information is http://curehht.org/about-hht/. I would encourage everyone to learn more as this is a disorder that is often left undiagnosed or misunderstood.

JPS is a disorder that occurs in approximately 1 in 100,000 people worldwide. Most simply defined it is characterized by multiple non-cancerous growths, these typically start to develop before the age of 20, in the gastrointestinal (GI) tract, typically in your large intestine (colon). The number of polyps can vary from person to person anywhere from just a few, to hundreds, even within the same family.

JPS is the area that we as a family have the most experience, as this is what has caused many of Jay-Are’s symptoms and therefore as a result surgeries in the past. Up until recently Jay-Are had been clinically diagnosed with Familial Adenomatous Polyposis (FAP) due to the shear amount of polyps that he had in his colon, but we have recently learned that he does not have this at all. This is a relief in many ways, but doesn’t change the past and the pain that he has gone through, it does however allow us a clear path for the future for Bug and her treatment plans.

Both of these disorders are caused by a mutation on the SMAD4 Gene. Approximately 15-22% of people with an alteration to this gene have the combined disorder. So it’s a relatively rare thing to have the combined syndrome, but not unheard of. One of the hardest parts of dealing with this disorder is just not knowing what we were dealing with for so long. It’s been 13 years of various random symptoms for Jay-Are, only to have them all put together and confirmed because of the situation that we recently had with Bug.

Some Background

As many of you know, over the years Jay-Are has had a number of health issues. For many years we haven’t known exactly what was going on, but clinically Jay-Are had been diagnosed with Familial Adenomatous Polyposis (FAP). As none of his family members have had any similar issues, we had made an assumption based on this clinical diagnosis that this was as a result of a random genetic mutation. As a result of all of this he has had a multitude of complications including the removal of his large intestine (colon) in 2003 and most recently multiple bowel obstructions (3 in 2014 alone, resulting in 4 hospital stays). He has to have yearly colonoscopies and bi-yearly endoscopies to ensure that he is not growing additional polyps, and to remove any that have grown. It has been one heck of a ride to say the least, but it has been a part of our lives for so long, that it just is what it is.

In preparation for one of his many procedures, I can’t for the life of me remember which one at this point, but at one of the times, he was required to have a chest x-ray done. On this chest x-ray it was discovered that he had a spot on his lung. After a few additional tests to figure out what was going on, we discovered that Jay-Are had pulmonary Arteriovenous malformation AVM’s. At the time basically what we knew about them was that it was, according to our doctor, safer to leave them then to fix them, and as long as he didn’t start coughing up blood we were fine, and if he did go to the ER (like we needed to be told to do that).

In addition to having what we have long thought was FAP and pulmonary AVM’s, Jay-Are also over the years, by accident mind you, got diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT). He was diagnosed with this by an Ear Nose Throat (ENT) doctor that we had visited to talk to about his nosebleeds that he has had since he was a kid. Once we learned about the HHT, we did a lot more research and learned that his nosebleeds, pulmonary AVM’s and even potentially his polyps could all be linked together!

We knew when we decided to have children that there was a 50% chance that our child could have whatever it was that Jay-Are had. We talked about it a lot and we decided that we wanted to have children, and that if our child did have what Jay-Are had, that it would be ok, that we would make it ok.

Recently, in April of this year, our baby girl Cayleigh (Bug) started having some symptoms that through a series of doctors and hospital visits lead us to discover that she has HHT, like her dad. This has been hard, but we are doing what we said we would, and we are making it be ok. 

February 2014

April 2014

 September 2014

 November 2014

Welcome

In our family we have had more than our fair share of medical issues. It has been a ride and we know that many of our friends and family have questions on what it is that we have gone through. I (Danielle) wanted to have a way to give everyone a little bit more background and information about not only what we have gone through, but also what we will continue to go through in the years to come. I love to answer questions, so please feel free to ask away if you have them! 

I will be the first to admit that I am not a writer by any means, but I want to share our journey, not only with those that are closest to us, but also maybe even with someone else who is going through something similar. I hope that our journey is a blessing to you.